Canonical Allele Identifier: CA9488647

Gene: XRCC1

Linked Data

• ClinVar Variation Id: 2580278
• ClinVar RCV Id: RCV003329491
• dbSNP Id: rs25489
• ExAC: 19:44056412 C / T
• gnomAD v2: 19-44056412-C-T
• gnomAD v3: 19-43552260-C-T
• gnomAD v4: 19-43552260-C-T
• COSMIC: COSM1394288
• MyVariant Identifiers: chr19:g.44056412C>T (hg19) ; chr19:g.43552260C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43552260C>T , CM000681.2:g.43552260C>T	GRCh38
NC_000019.9:g.44056412C>T , CM000681.1:g.44056412C>T	GRCh37
NC_000019.8:g.48748252C>T	NCBI36
NG_033799.1:g.28319G>A , LRG_784:g.28319G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262887.10:c.839G>A MANE Select	ENSP00000262887.5:p.Arg280His
ENST00000262887.9:c.839G>A	ENSP00000262887.4:p.Arg280His
ENST00000543982.5:c.746G>A	ENSP00000443671.1:p.Arg249His
ENST00000595789.5:n.960G>A
ENST00000597811.5:c.449G>A
ENST00000598165.5:c.860G>A	ENSP00000470045.1:p.Arg287His
ENST00000598422.1:n.519G>A
NM_006297.2:c.839G>A , LRG_784t1:c.839G>A	NP_006288.2:p.Arg280His
NM_006297.3:c.839G>A MANE Select	NP_006288.2:p.Arg280His